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Page 1
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI. Loeber JG, et al. Among authors: groselj u. Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015. Int J Neonatal Screen. 2021. PMID: 33808002 Free PMC article.
Newborn screening in southeastern Europe.
Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori VM, Maksic H, Marginean O, Margineanu O, Milijanovic O, Moldovanu F, Muresan M, Murko S, Nanu M, Lampret BR, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Groselj U, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):42-5. doi: 10.1016/j.ymgme.2014.07.020. Epub 2014 Aug 1. Mol Genet Metab. 2014. PMID: 25174966
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Zerjav Tansek M, et al. Among authors: groselj u. Orphanet J Rare Dis. 2015 May 30;10:68. doi: 10.1186/s13023-015-0283-0. Orphanet J Rare Dis. 2015. PMID: 26025111 Free PMC article.
Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Among authors: groselj u. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.
Current Status of Newborn Screening in Southeastern Europe.
Koracin V, Mlinaric M, Baric I, Brincat I, Djordjevic M, Drole Torkar A, Fumic K, Kocova M, Milenkovic T, Moldovanu F, Mulliqi Kotori V, Nanu MI, Remec ZI, Repic Lampret B, Platis D, Savov A, Samardzic M, Suzic B, Szatmari I, Toromanovic A, Zerjav Tansek M, Battelino T, Groselj U. Koracin V, et al. Among authors: groselj u. Front Pediatr. 2021 May 7;9:648939. doi: 10.3389/fped.2021.648939. eCollection 2021. Front Pediatr. 2021. PMID: 34026686 Free PMC article.
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. Among authors: groselj u. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
Towards Achieving Equity and Innovation in Newborn Screening across Europe.
Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR. Sikonja J, et al. Among authors: groselj u. Int J Neonatal Screen. 2022 May 6;8(2):31. doi: 10.3390/ijns8020031. Int J Neonatal Screen. 2022. PMID: 35645285 Free PMC article. Review.
Newborn Screening in a Pandemic-Lessons Learned.
Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U. Mlinaric M, et al. Among authors: groselj u. Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021. Int J Neonatal Screen. 2023. PMID: 37092515 Free PMC article. Review.
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
Marusic T, Sustar U, Sadiq F, Kotori V, Mlinaric M, Kovac J, Shafi S, Khan I, Cevc M, Trebusak Podkrajsek K, Battelino T, Groselj U. Marusic T, et al. Among authors: groselj u. Front Genet. 2020 Sep 11;11:572176. doi: 10.3389/fgene.2020.572176. eCollection 2020. Front Genet. 2020. PMID: 33093846 Free PMC article.
Next-Generation Sequencing in Newborn Screening: A Review of Current State.
Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, Battelino T, Debeljak M. Remec ZI, et al. Among authors: groselj u. Front Genet. 2021 May 26;12:662254. doi: 10.3389/fgene.2021.662254. eCollection 2021. Front Genet. 2021. PMID: 34122514 Free PMC article. Review.
133 results